A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv980271



Internal ID18615471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:165219630..165233334hg38UCSC Ensembl
Innerchr4:166140782..166154486hg19UCSC Ensembl
Innerchr4:166360232..166373936hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg3813705
hg1913705
hg1813705
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2339777, nssv2339778, nssv2339780, nssv2339782, nssv2339775, nssv2339779, nssv2339783, nssv2339776, nssv2339781, nssv2339774
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesKLHL2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv980271
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer